Full data view for gene CREBBP

The variants shown are described using the NM_004380.2 transcript reference sequence.

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Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

Reference: Reference to publication describing the variant, including links to OMIM (when available), PubMed or or other source, e.g. "den Dunnen ASHG2003 P2346".

DB-ID: Database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro.

Technique: Technique(s) used to identify the sequence variant.
All options:

? = Unknown

arrayCGH = array for Comparative Genomic Hybridisation

arraySEQ = array for resequencing

arraySNP = array for SNP typing

arrayCNV = array for Copy Number Variation (SNP and CNV probes)

BESS = Base Excision Sequence Scanning

CMC = Chemical Mismatch Cleavage

CSCE = Conformation Sensitive Capillary Electrophoresis

DGGE = Denaturing-Gradient Gel-Electrophoresis

DHPLC = Denaturing High-Performance Liquid Chromatography

DOVAM = Detection Of Virtually All Mutations (SSCA variant)

ddF = dideoxy Fingerprinting

DSCA = Double-Strand DNA Conformation Analysis

EMC = Enzymatic Mismatch Cleavage

HD = HeteroDuplex analysis

MCA = high-resolution Melting Curve Analysis (hrMCA)

IHC = Immuno-Histo-Chemistry

MAPH = Multiplex Amplifiable Probe Hybridisation

MLPA = Multiplex Ligation-dependent Probe Amplification

SEQ-NG = Next-Generation Sequencing

SEQ-NG-H = Next-Generation Sequencing - Helicos

SEQ-NG-I = Next-Generation Sequencing - Illumina/Solexa

SEQ-NG-R = Next-Generation Sequencing - Roche/454

SEQ-NG-S = Next-Generation Sequencing - SOLiD

Northern = Northern blotting

PCR = Polymerase Chain Reaction

PCRdig = PCR + restriction enzyme digestion

PCRlr = PCR, long-range

PCRm = PCR, multiplex

PCRq = PCR, quantitative

PAGE = Poly-Acrylamide Gel-Electrophoresis

PTT = Protein Truncation Test

PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)

RT-PCR = Reverse Transcription and PCR

SEQ = SEQuencing

SBE = Single Base Extension

SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)

SSCAf = SSCA, fluorescent (SSCP)

Southern = Southern blotting

TaqMan = TaqMan assay

Western = Western Blotting

Reference: Reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, including link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346". References in the "Country:City" format indicate that the variant was submitted directly to this database by the laboratory indicated.

Remarks: Remarks about the individual.

433 entries on 5 pages. Showing entries 1 - 100.

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